Mutations and Variants

Hi, everyone! I'm hoping someone out there has some advice. I'm 12 weeks pregnant and I learned a few weeks ago that I'm a CF carrier. I have delta 508. My husband had a more advanced screening done and while he doesn't have any mutations, he has two variants: 5T and M407V. We just learned that part yesterday.

We've met and spoke with our genetic counselor, but honestly it's all confusing. While our "chances" of having a baby with CF seem lower than if my husband and I both had mutations, it still sounds like we could have anything from a totally healthy baby, to a baby with "atypical" CF to full blown CF. Anyone else in this situation? Also, I think atypical CF is a blanket term for kids that have these mutations but don't necessarily have CF in it's traditional form--they have things like pancreatitis, sinusitis, congential absence of the vas deferns, etc. But does anyone know more or have good resource suggestions?

Hi
My son has the same mutation as your husband- I think you meant m470v. He has the chronic sinusitis, pancreatic issues and pulmonary issues but they do not treat him as a person with the actual disease. He takes various medications and is sick quite often but he is a typical little boy. You may want to go to the cf webpage or the Boomer Esison webpage. They have an area where you can ask the expert questions - which I did and she helped me understand what the mutations mean.